This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Pro478_His487delinsHisThrGlnHisLysGlyHisArgGly;Phe489_Tyr491delinsSerCysSer;Thr493_Gly505delinsLeuHisVal;Asn507Asp]
CA2813598417
NM_001195799.2:c.1432_1433insACACCCAACA